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SRGAP2 Gene

protein-coding   GIFtS: 60
GCID: GC01P206516

SLIT-ROBO Rho GTPase Activating Protein 2

(Previous name: formin binding protein 2)
(Previous symbol: FNBP2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SLIT-ROBO Rho GTPase Activating Protein 21 2     KIAA04563 5
FNBP21 2 3     Formin Binding Protein 21
Formin-Binding Protein 22 3     SRGAP32
Rho GTPase-Activating Protein 342 3     SLIT-ROBO Rho GTPase-Activating Protein 22
ARHGAP342 3     srGAP23
SRGAP2A2 3     

External Ids:    HGNC: 197511   Entrez Gene: 233802   Ensembl: ENSG000001634867   OMIM: 6065245   UniProtKB: O750443   

Export aliases for SRGAP2 gene to outside databases

Previous GC identifers: GC01P205217 GC03M008962 GC03M008997 GC01P202944 GC01P204583 GC01P177269


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SRGAP2 Gene:
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates
GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogous loci
on human chromosome 1, resulting from segmental duplication. While this locus itself is conserved among various
species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes.
Alternatively spliced transcript variants have been described for this locus. (provided by RefSeq, Dec 2012)

GeneCards Summary for SRGAP2 Gene:
SRGAP2 (SLIT-ROBO Rho GTPase activating protein 2) is a protein-coding gene. Diseases associated with SRGAP2 include infantile epileptic encephalopathy, and atrioventricular septal defect. GO annotations related to this gene include Rac GTPase activator activity and protein homodimerization activity. An important paralog of this gene is ARHGAP5.

UniProtKB/Swiss-Prot: SRGP2_HUMAN, O75044
Function: RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to
regulate cell migration and differentiation. Plays an important role in different aspects of neuronal
morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of
neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic
spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in
the cerebral cortex. Its interaction and inhibition by SRGAP2C reduces the rate of spine maturation, alters
dendritic spine morphology and density and indirectly increases neuronal migration. It may have implications for
cognition, learning and memory. In non-neuronal cells, it may also play a role in cell migration by regulating
the formation of lamellipodia and filopodia




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SRGAP2 gene promoter:
         AhR   GR   GR-beta   FOXD3   Tal-1beta   Arnt   E47   PPAR-alpha   AREB6   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRGAP2 promoter sequence
   Search Chromatin IP Primers for SRGAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRGAP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

SRGAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRGAP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P206516:  view genomic region     (about GC identifiers)

Start:
206,516,197 bp from pter      End:
206,637,783 bp from pter
Size:
121,587 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SRGP2_HUMAN, O75044 (See protein sequence)
Recommended Name: SLIT-ROBO Rho GTPase-activating protein 2  
Size: 1071 amino acids; 120881 Da
Subunit: Homodimer (Probable). Forms a heterooligomer with SRGAP1 and SRGAP3 through its F-BAR domain. Interacts
(via SH3 domain) with GPHN (By similarity). Interacts with SRGAP2C; formation of the heterodimer alters SRGAP2
function. Interacts (via SH3 domain) with FMNL1 (activated by RAC1); regulates the actin filament severing
activity of FMNL1 and actin dynamics. Interacts (via SH3 domain) with FMNL3. Interacts with RAC1; specifically
stimulates RAC1 GTPase activity. Probably interacts with ROBO1 and ROBO2. Interacts with FASLG. Interacts with
PRMT5
Miscellaneous: There are 3 duplications of SRGAP2 in the human genome as a result of segmental gene duplications.
SRGAP2C is the only one to be fixed at a diploid state in the human genome. Moreover, SRGAP2C is functional,
interacts with and inhibits SRGAP2 and is human-specific. The appearance of SRGAP2C in the human genome is
estimated to 2,4 million years ago, which corresponds to the beginning of neocortex expansion in human evolution
and it may have played an important role in this process through its interaction with SRGAP2 function
Sequence caution: Sequence=BAA32301.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for SRGAP2:
2DL8 (3D)    

Explore the universe of human proteins at neXtProt for SRGAP2: NX_O75044

Explore proteomics data for SRGAP2 at MOPED

Post-translational modifications: 

  • Methylation at Arg-927 is required for the stimulation of cell migration, dimerization and localization at the
    plasma membrane protrusions1
  • Ubiquitination2 at Lys33
  • Modification sites at PhosphoSitePlus

  • See SRGAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001164108.1  NP_056141.2  

    ENSEMBL proteins: 
     ENSP00000295713   ENSP00000403036   ENSP00000397004   ENSP00000390898   ENSP00000397990  
    Reactome Protein details: O75044

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARHGAP: Rho GTPase activating proteins

    4 InterPro protein domains:
     IPR001060 FCH_dom
     IPR008936 Rho_GTPase_activation_prot
     IPR001452 SH3_domain
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry O75044

    ProtoNet protein and cluster: O75044

    5 Blocks protein domains:
    IPB000198 RhoGAP domain
    IPB001060 Cdc15/Fes/CIP4
    IPB001452 SH3 domain signature
    IPB002017 Spectrin repeat
    IPB006121 Heavy metal transport/detoxification protein


    UniProtKB/Swiss-Prot: SRGP2_HUMAN, O75044
    Domain: The F-BAR domain mediates oligomerization, binds membranes, and induces plasma membrane protrusions
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 Rho-GAP domain
    Similarity: Contains 1 SH3 domain


    SRGAP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SRGP2_HUMAN, O75044
    Function: RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to
    regulate cell migration and differentiation. Plays an important role in different aspects of neuronal
    morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of
    neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic
    spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in
    the cerebral cortex. Its interaction and inhibition by SRGAP2C reduces the rate of spine maturation, alters
    dendritic spine morphology and density and indirectly increases neuronal migration. It may have implications for
    cognition, learning and memory. In non-neuronal cells, it may also play a role in cell migration by regulating
    the formation of lamellipodia and filopodia

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16318909
    GO:0030675Rac GTPase activator activity IMP--
    GO:0042803protein homodimerization activity IDA--
    GO:0048365Rac GTPase binding IDA--
         
    SRGAP2 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Srgap2):
     mortality/aging  nervous system 

    SRGAP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRGAP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SRGAP2
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    miRNA
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    miRTarBase miRNAs that target SRGAP2:
    hsa-mir-98-5p (MIRT027717), hsa-mir-186-5p (MIRT045164), hsa-mir-125a-5p (MIRT045756), hsa-mir-214-3p (MIRT024967), hsa-mir-191-5p (MIRT045795), hsa-mir-7-5p (MIRT025878)

    Block miRNA regulation of human, mouse, rat SRGAP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SRGAP2 (see all 97):
    hsa-miR-300 hsa-miR-128 hsa-miR-3122 hsa-miR-1298 hsa-miR-1231 hsa-miR-27a hsa-miR-1267 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidSRGAP2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SRGP2_HUMAN, O75044: Cell membrane. Cell projection, dendritic spine. Cell junction, synapse, postsynaptic cell
    membrane, postsynaptic density (By similarity). Cell junction, synapse, postsynaptic cell membrane (By
    similarity). Cell projection, lamellipodium. Cytoplasmic vesicle, phagosome (By similarity). Nucleus (By
    similarity). Cytoplasm (By similarity). Note=Recruited to actin-rich phagosomes during phagocytosis (By
    similarity). Translocates from nucleus to cytoplasm during development (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton4
    cytosol4
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005743mitochondrial inner membrane ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--

    SRGAP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SRGAP2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    2Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    3Signaling by Robo receptor
    Inactivation of Cdc42 and Rac0.00
    Signaling by Robo receptor
    4Signaling by GPCR
    Signal Transduction0.58
    5Signaling by Slit
    Signaling by Slit

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SRGAP2
        Guidance Cues and Growth Cone Motility
    Signaling by Slit

    2 Reactome Pathways for SRGAP2
        Inactivation of Cdc42 and Rac
    Rho GTPase cycle


    1 Kegg Pathway  (Kegg details for SRGAP2):
        Axon guidance


    SRGAP2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SRGAP2
    Interactions:

        Search GeneGlobe Interaction Network for SRGAP2

    Selected Interacting proteins for SRGAP2 (O750441, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FASLGP480231, 2, 3EBI-1051034,EBI-495538 MINT-7137103 I2D: score=2 
    YWHAGP619812, 3MINT-50874 I2D: score=4 
    YWHAZP631042, 3MINT-3307383 I2D: score=1 
    DISC1Q9NRI53I2D: score=2 
    ATAD3AQ9NVI73I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003363lamellipodium assembly involved in ameboidal cell migration IMP--
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007411axon guidance TAS--
    GO:0008283NOT cell proliferation IMP--

    SRGAP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SRGAP2 (SRGP2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SRGAP2 gene (3 alternative transcripts): 
    NM_001170637.2  NM_015326.3  NM_001042758.1  

    Unigene Cluster for SRGAP2:

    SLIT-ROBO Rho GTPase activating protein 2
    Hs.497575  [show with all ESTs]
    Unigene Representative Sequence: NM_015326
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295713(uc001hdy.3 uc010pru.2) ENST00000483628 ENST00000467419(uc009xbt.3)
    ENST00000439126(uc001hdx.3) ENST00000471256 ENST00000426388 ENST00000488049
    ENST00000414007 ENST00000419187
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    hsa-miR-300 hsa-miR-128 hsa-miR-3122 hsa-miR-1298 hsa-miR-1231 hsa-miR-27a hsa-miR-1267 hsa-miR-1
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    Additional mRNA sequence: 

    AB007925.1 AK000885.1 AK057565.1 AK091814.1 AK293335.1 AK294060.1 AK295845.1 AK311111.1 
    BC041635.1 BC063527.1 BC112927.1 BC132872.1 BC132874.1 BC144343.1 S68466.1 

    11 DOTS entries:

    DT.313337  DT.97799292  DT.414555  DT.121370749  DT.121370798  DT.107435  DT.412097  DT.100733276 
    DT.121370678  DT.92068097  DT.92037739 

    Selected AceView cDNA sequences (see all 272):

    AI220391 AW504282 AI340046 BU528772 AA137082 BX505337 AI090881 F01655 
    AA423798 BU634097 AI338855 AA155797 AA742261 BX477574 BE273609 AA495930 
    CA447513 AA827731 AK000885 BC041635 AI653030 AA761793 BU741272 F11248 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SRGAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAAGAGAA
    SRGAP2 Expression
    About this image


    SRGAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Brain (Nervous System)
             Cerebral Cortex
    SRGAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRGAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497575
        Custom PCR Arrays for SRGAP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRGAP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SRGAP2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srgap21 , 5 SLIT-ROBO Rho GTPase activating protein 21, 5 91.78(n)1
    98.23(a)1
      1 (56.93 cM)5
    142701  NM_001081011.21  NP_001074480.21 
     1312852515 
    chicken
    (Gallus gallus)
    Aves SRGAP21 SLIT-ROBO Rho GTPase activating protein 2 81.57(n)
    94.21(a)
      419843  XM_417972.4  XP_417972.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)

    76(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    GL343228.1(1178368-1180427)
    AAWZ02038242(5364-9744)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.326172 Xenopus laevis transcribed sequence with weak similarity more 74.53(n)    BJ638233.1 
    zebrafish
    (Danio rerio)
    Actinopterygii srgap2a1 SLIT-ROBO Rho GTPase activating protein 2a 73.87(n)
    78.01(a)
      556198  NM_001048235.1  NP_001041700.1 


    ENSEMBL Gene Tree for SRGAP2 (if available)
    TreeFam Gene Tree for SRGAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SRGAP2 gene
    ARHGAP52  ARHGAP172  SRGAP12  ARHGAP242  ARHGAP222  SRGAP32  ARHGAP352  ARHGAP442  
    SH3BP12  ARHGAP252  ARHGAP42  
    9 SIMAP similar genes for SRGAP2 using alignment to 10 protein entries:     SRGP2_HUMAN (see all proteins):
    SRGAP2C    KIAA1156    SRGAP3    SRGAP1    C1    ARHGAP21
    ARHGAP4    CHN2    ARHGAP12

    SRGAP2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SRGAP2
    PGOHUM00000244882 PGOHUM00000259585


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SRGAP2 (see all 629)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs765108711,2
    F--206111208(+) GGCAAT/CTGATC 2 -- int12Minor allele frequency- C:0.33NA 6
    rs801722801,2
    F--206111221(+) TTTACG/CAAGGG 2 -- int12Minor allele frequency- C:0.50NA 8
    rs2010892991,2
    C--206118588(+) AAGAT-/CAAAAC 2 -- int10--------
    rs716335751,2
    C,F--206130985(+) GCCACC/TCTGTT 2 -- int12Minor allele frequency- T:0.50NA 4
    rs718644341,2
    C--206131413(+) CAATT-/TAAAA 
            
    TAATA
    2 -- int10--------
    rs756782221,2
    F--206483835(+) TTTCCG/ACAATT 2 -- int13Minor allele frequency- A:0.38NA 8
    rs797774211,2
    F--206483837(+) TCCACC/AATTAA 2 -- int13Minor allele frequency- A:0.38NA 8
    rs3723867401,2
    C--206484256(+) GATTTC/TCTCTG 2 -- int10--------
    rs3746114361,2
    C--206486745(+) AGTTGA/GTGTAG 2 -- int10--------
    rs3699628061,2
    C--206487789(+) TAGTG-/TTTTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SRGAP2 (206516197 - 206637783 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SRGAP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821120CNV Duplication20802225
    dgv521n71CNV Loss21882294
    esv28559CNV Gain19812545
    nsv826442CNV Gain20364138

    Human Gene Mutation Database (HGMD): SRGAP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SRGAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for SRGAP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606524    OMIM disorders: --

    UniProtKB/Swiss-Prot: SRGP2_HUMAN, O75044
  • Note=A chromosomal aberration disrupting SRGAP2 has been found in a patient with early infantile
    epileptic encephalopathy. Balanced translocation t(1;9)(q32;q13)

  • 15 diseases for SRGAP2:    
    About MalaCards
    infantile epileptic encephalopathy    atrioventricular septal defect    pilocytic astrocytoma    chondrosarcoma
    retinoblastoma    astrocytoma    amyotrophic lateral sclerosis    lateral sclerosis
    schizophrenia    neuronitis    cerebritis    retinitis
    multiple myeloma    myeloma    breast cancer

    1 disease from the University of Copenhagen DISEASES database for SRGAP2:
    Atrioventricular septal defect

    SRGAP2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SRGAP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondrosarcoma 69.8 1 12736724 (1)
    retinoblastoma 48.5 1 12736724 (1)
    breast cancer 12.3 1 12736724 (1)

    Genetic Association Database (GAD): SRGAP2
    Human Genome Epidemiology (HuGE) Navigator: SRGAP2 (7 documents)

    Export disorders for SRGAP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SRGAP2 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with SRGAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. (PubMed id 11672528)1, 2, 3 Wong K.... Rao Y. (Cell 2001)
    2. Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. (PubMed id 22559944)1, 2 Charrier C....Polleux F. (Cell 2012)
    3. Bi-modal regulation of a formin by srGAP2. (PubMed id 21148482)1, 2 Mason F.M.... Soderling S.H. (J. Biol. Chem. 2011)
    4. srGAP2 arginine methylation regulates cell migration and cell spreading through promoting dimerization. (PubMed id 20810653)1, 2 Guo S. and Bao S. (J. Biol. Chem. 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
    8. Changes in mRNA of Slit-Robo GTPase-activating protein 2 following facial nerve transection. (PubMed id 15046868)1, 3 Madura T....Tohyama M. (Brain Res. Mol. Brain Res. 2004)
    9. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (DNA Res. 1997)
    10. FNBP2 gene on human chromosome 1q32.1 encodes ARHGAP family protein with FCH, FBH, RhoGAP and SH3 domains. (PubMed id 12736724)1, 9 Katoh M. and Katoh M. (Int. J. Mol. Med. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23380 HGNC: 19751 AceView: FNBP2 Ensembl:ENSG00000163486 euGenes: HUgn23380
    ECgene: SRGAP2 Kegg: 23380 H-InvDB: SRGAP2

    (According to HUGE)
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    HUGE: KIAA0456

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SRGAP2 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/143

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SRGAP2 gene:
    Search GeneIP for patents involving SRGAP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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